COQ9

Chr 16

coenzyme Q9

Also known as: C16orf49, COQ10D5

NCBI Gene: 57017ENSG00000088682UniProt: O75208

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCoenzyme Q10 deficiency, primary, 5

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.01
LOEUF
LOF
Mechanism· G2P
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GeneReview available — COQ9
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.000
Z-score 1.53
OE 0.61 (0.38–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.05 (0.93–1.18)
183 obs / 174.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.61 (0.38–1.01)
0≤0.351.4
Missense OE?1.05 (0.93–1.18)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 11 / 18.0Missense obs/exp: 183 / 174.9Syn Z: 0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COQ9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients